Isolation and use of chromosome 1 probes for linkage studies on Charcot-Marie-Tooth disease

Nine probes were isolated from a human chromosome 1 enriched library and mapped to regions of chromosome 1 using somatic cell hybrid lines. One clone, LR67, which mapped 1q12→q23 detected a BglI RFLP. This probe, as well as 4 other known chromosome 1 markers, α-spectrin, Factor XIIIB, DR10 and DR78, were used for linkage studies in 15 Charcot-Marie-Tooth disease (CMT1) families. Close linking of CMT1 to any of the 5 markers was not indicated. Total lod scores excluded linkage of CMT1 to LR67 and to DR10 at 5 cM or less, to DR78 and 10 cM or less, α-spectrin at 15 cM or less and Factor XIIIB at 20 cM or less. Possible linkage, however, was shown between LR67 and CMT1 at a distance of 30 cM. Also linkage at a distance of 5 cM was detected between this probe and α-spectrin.

A locus on the long arm of chromosome 1 as a possible cause of essential hypertension

None of the genes responsible for essential hypertension has been identified. Recent work in genetically hypertensive rats has shown linkage of blood pressure with alleles of the renin gene. Since the renin gene is a member of a conserved synteny group that in humans spans chromosome 1q21.3-32.3 and includes the gene for antithrombin III (AT3), we used linkage studies to examine the relationship between alleles of AT3 and hypertension in a family having 10 affected members. From the lod score obtained at a recombination fraction of zero the odds for linkage of AT3 and hypertension in this family were calculated as 6:1 in favour of linkage. This result provides grounds for further examination of the possible role of the 1q23 locus in the aetiology of essential hypertension.

Familial typical migraine: Linkage to chromosome 19p13 and evidence for genetic heterogeneity

Migraine is a frequent familial disorder that, in common with most multifactorial disorders, has an unknown etiology. The authors identified several families with multiple individuals affected by typical migraine using a single set of diagnostic criteria and studied these families for cosegregation between the disorder and markers on chromosome 19, the location of a mutation that causes a rare form of familial hemiplegic migraine (FHM). One large tested family showed both cosegregation and significant allele sharing for markers situated within or adjacent to the FHM locus. Multipoint GENEHUNTER results indicated significant excess allele sharing across a 12.6- cM region containing the FHM Ca2+ channel gene, CACNL1A4 (maximum nonparametric linkage Z score = 6.64, p = 0.0026), with a maximum parametric lod score of 1.92 obtained for a (CAG)(n) triplet repeat polymorphism situated in exon 47 of this gene. The CAG expansion did not, however, appear to be the cause of migraine in this pedigree. Other tested families showed neither cosegregation nor excess allele sharing to chromosome 19 markers. HOMOG analysis indicated heterogeneity, generating a maximum HLOD score of 3.6. It was concluded that Chr19 mutations either in the CACNL1A4 gene or a closely linked gene are implicated in some pedigrees with familial typical migraine, and that the disorder is genetically heterogeneous.

Towards a dignified and sustainable electricity generation sector in Australia : a comparative review of three models

Electricity is the cornerstone of modern life. It is essential to economic stability and growth, jobs and improved living standards. Electricity is also the fundamental ingredient for a dignified life; it is the source of such basic human requirements as cooked food, a comfortable living temperature and essential health care. For these reasons, it is unimaginable that today's economies could function without electricity and the modern energy services that it delivers. Somewhat ironically, however, the current approach to electricity generation also contributes to two of the gravest and most persistent problems threatening the livelihood of humans. These problems are anthropogenic climate change and sustained human poverty. To address these challenges, the global electricity sector must reduce its reliance on fossil fuel sources. In this context, the object of this research is twofold. Initially it is to consider the design of the Renewable Energy (Electricity) Act 2000 (Cth) (Renewable Electricity Act), which represents Australia's primary regulatory approach to increase the production of renewable sourced electricity. This analysis is conducted by reference to the regulatory models that exist in Germany and Great Britain. Within this context, this thesis then evaluates whether the Renewable Electricity Act is designed effectively to contribute to a more sustainable and dignified electricity generation sector in Australia. On the basis of the appraisal of the Renewable Electricity Act, this thesis contends that while certain aspects of the regulatory regime have merit, ultimately its design does not represent an effective and coherent regulatory approach to increase the production of renewable sourced electricity. In this regard, this thesis proposes a number of recommendations to reform the existing regime. These recommendations are not intended to provide instantaneous or simple solutions to the current regulatory regime. Instead, the purpose of these recommendations is to establish the legal foundations for an effective regulatory regime that is designed to increase the production of renewable sourced electricity in Australia in order to contribute to a more sustainable and dignified approach to electricity production.

ICT and internet usage in early childhood education : a comparative study of Australian and Malaysian teachers' beliefs and current practices

The thesis is a comparative study of ICTs and Internet use of Australian and Malaysian early childhood teachers in terms of their personal and professional comfort with ICTs, pedagogical beliefs, and their reported classroom practice. The study discovered teachers from both countries as relatively comfortable with digital technologies and the Internet, with most teachers held positive beliefs about ICT usage. The structural barriers in classrooms include lack of Internet access and the wide gap that exists between teachers’ positive beliefs and classroom practice. The study suggests the need for strategic and targeted professional development for teachers.

Comparative study on the protective effects of Yinchenhao Decoction against liver injury induced by alpha-naphthylisothiocyanate and carbon tetrachloride

OBJECTIVE: To optimize the animal model of liver injury that can properly represent the pathological characteristics of dampness-heat jaundice syndrome of traditional Chinese medicine. METHODS: The liver injury in the model rat was induced by alpha-naphthylisothiocyanate (ANIT) and carbon tetrachloride (CCl(4) ) respectively, and the effects of Yinchenhao Decoction (, YCHD), a proved effective Chinese medical formula for treating the dampness-heat jaundice syndrome in clinic, on the two liver injury models were evaluated by analyzing the serum level of alanine aminotransferase (ALT), asparate aminotransferase (AST), alkaline phosphatase (ALP), malondialchehyche (MDA), total bilirubin (T-BIL), superoxide dismutase (SOD), glutathione peroxidase (GSH-PX) as well as the ratio of liver weight to body weight. The experimental data were analyzed by principal component analytical method of pattern recognition. RESULTS: The ratio of liver weight to body weight was significantly elevated in the ANIT and CCl(4) groups when compared with that in the normal control (P<0.01). The contents of ALT and T-BIL were significantly higher in the ANIT group than in the normal control (P<0.05,P<0.01), and the levels of AST, ALT and ALP were significantly elevated in CCl(4) group relative to those in the normal control P<0.01). In the YCHD group, the increase in AST, ALT and ALP levels was significantly reduced (P<0.05, P<0.01), but with no significant increase in serum T-BIL. In the CCl(4) intoxicated group, the MDA content was significantly increased and SOD, GSH-PX activities decreased significantly compared with those in the normal control group, respectively (P<0.01). The increase in MDA induced by CCl(4) was significantly reduced by YCHD P<0.05). CONCLUSION: YCHD showed significant effects on preventing liver injury progression induced by CCl(4), and the closest or most suitable animal model for damp-heat jaundice syndrome may be the one induced by CCl(4).

Does project culture matter? A comparative study of two major hospital projects

Purpose - Cultural issues in the construction industry have attracted growing attention from both practitioners and academia. However, there are few studies on culture issues at the project level. The influence of project culture has not traditionally been on the research radar. This research aims to investigate the impacts of project culture on the performance of construction projects. Design/methodology/approach - A case study approach, utilising questionnaire surveys, in-depth interviews and review of project documents, was employed to investigate project culture and its associated impacts in two major hospital projects. Findings - The results indicated that project culture played an important role in achieving harmonious relationships between project participants and better project outcomes in terms of schedule, functionality, satisfaction with the process, satisfaction with the relationships, environmental issues addressed commercial success, further business opportunities and overall performance. Case 1 outperformed Case 2 in these performance indicators. Similarly, it became clear that the project’s culture should be developed from the outset and sustained during the project period. Furthermore, it was also highlighted that the project culture should be translated to all levels of the supply chain i.e. sub-contractors and suppliers. Practical implications – The findings enabled the client to understand the role of project culture and actively commit towards the development and maintenance of the project culture from very early on. It also helps project teams to understand how to deal with cultural issues at the project level. Originality/value- This study is one of limited empirical studies that offer in-depth insights of how project culture affects the performance of construction projects. It is also the first study of hospital projects on the research topic.

The need for legislative reform of the privity doctrine in commercial contracts in Malaysia : a comparative analysis

This thesis commences with the proposition that the first limb of the doctrine of privity causes injustice to third party beneficiaries in Malaysia, particularly in commercial contracts. The doctrine of privity has been the subject of criticism by the judiciary and academic commentators in common law jurisdictions, mainly directed at the first limb of the doctrine, whereby only parties to a contract can sue and be sued. The first limb prevents a third party from enforcing benefits conferred on them by those contracts thereby resulting in third parties suffering loss and injustice to those parties. In several common law countries, such as England, Australia, New Zealand and Singapore, legislative reform of the doctrine has occurred. The legislative reform has abrogated to a significant extent the doctrine of privity in commercial contracts. Malaysia is a common law country, where the doctrine of privity is still applied to contracts. An analysis of Malaysian case law demonstrates that the most affected third party beneficiaries are those seeking to enforce insurance and construction contracts. While a small number of other third parties to commercial contracts, such as agreements to pay for work done, sale and purchase agreements and tenancy agreements are also affected, the detriment is not as significant. As a consequence, this thesis focuses primarily on the impact of the doctrine of privity on commercial contracts in the areas of insurance and construction in Malaysia The thesis aims to recommend appropriate reforms to address the injustices arising from the privity doctrine for third parties seeking to obtain the benefit of insurance and construction contracts, which may also benefit third parties to other types of commercial contracts. While the Malaysian insurance, consumer protection, negotiable instruments and agency laws allow third party beneficiaries to enforce benefits in contracts, the rights are found to be inadequate. As not all third parties seeking to enforce an insurance or construction contract can rely upon the legislation, the injustice arising from the doctrine of privity remains and needs to be addressed. To achieve this aim, a comparative analysis of the rights of third party beneficiaries under insurance and construction contracts in Malaysia, Australia and England is undertaken. The results of the analysis are used to identify appropriate elements for a legislative framework guided by the three essential criteria for effective law reform developed in the thesis. The three criteria are certainty, public interest and justice. The thesis recommends first the enactment of general legislation applicable to all commercial contracts including insurance contracts. Secondly, the thesis recommends specific targeted legislation to address the injustice faced by third party beneficiaries in construction contracts.

Comparative study of failure mechanisms in steel and concrete members strengthened with CFRP composites

Over the last decade advanced composite materials, like carbon fibre reinforced polymer (CFRP), have increasingly been used in civil engineering infrastructure. The benefits of advanced composites are rapidly becoming evident. This paper focuses on the comparative performance of steel and concrete members retrofitted by carbon fibre reinforced polymers. The objective of this work is a systematic assessment and evaluation of the performance of CFRP for both the concrete and steel members available in the technical literature. Existing empirical and analytical models were studied. Comparison is made with respect to failure mode, bond characteristics, fatigue behaviour, durability, corrosion, load carrying capacity and force transfer. It is concluded that empirical expressions for the concrete-CFRP composite are not readily suited for direct use in the steel-CFRP composite. This paper identifies some of the major issues that need further investigation.

Process mining for clinical processes: A comparative analysis of four Australian hospitals

Business process analysis and process mining, particularly within the health care domain, remain under-utilised. Applied research that employs such techniques to routinely collected, health care data enables stakeholders to empirically investigate care as it is delivered by different health providers. However, cross-organisational mining and the comparative analysis of processes present a set of unique challenges in terms of ensuring population and activity comparability, visualising the mined models and interpreting the results. Without addressing these issues, health providers will find it difficult to use process mining insights, and the potential benefits of evidence-based process improvement within health will remain unrealised. In this paper, we present a brief introduction on the nature of health care processes; a review of the process mining in health literature; and a case study conducted to explore and learn how health care data, and cross-organisational comparisons with process mining techniques may be approached. The case study applies process mining techniques to administrative and clinical data for patients who present with chest pain symptoms at one of four public hospitals in South Australia. We demonstrate an approach that provides detailed insights into clinical (quality of patient health) and fiscal (hospital budget) pressures in health care practice. We conclude by discussing the key lessons learned from our experience in conducting business process analysis and process mining based on the data from four different hospitals.

Motivating domestic energy conservation through comparative feedback in mobile applications and social networking sites

The progress of technology has led to the increased adoption of energy monitors among household energy consumers. While the monitors available on the market deliver real-time energy usage feedback to the consumer, the form of this data is usually unengaging and mundane. Moreover, it fails to address consumers with different motivations and needs to save and compare energy. This master‟s thesis project presents a study that seeks to inform design guidelines for differently motivated energy consumers. The focus of the research is on comparative feedback supported by a community of energy consumers. In particular, the discussed comparative feedback types are explanatory comparison, temporal self-comparison, norm comparison, one-on-one comparison and ranking, whereby the last three support exploring the potential of socialising energy-related feedback in social networking sites, such as Facebook. These feedback types were integrated in EnergyWiz – a mobile application that enables users to compare with their past performance, neighbours, contacts from social networking sites and other EnergyWiz users. The application was developed through a theory-driven approach and evaluated in personal, semi-structured interviews which provided insights on how motivation-related comparative feedback should be designed. It was also employed in expert focus group discussions which resulted in defining opportunities and challenges before mobile, social energy monitors. The findings have unequivocally shown that users with different motivations to compare and to conserve energy have different preferences for comparative feedback types and design. It was established that one of the most influential factors determining design factors is the people users compare to. In addition, the research found that even simple communication strategies in Facebook, such as wall posts and groups can contribute to engagement with energy conservation practices. The concept of mobility of the application was evaluated as positive since it provides place and time-independent access to the energy consumption data.

Australian domestic violence protection order legislation : a comparative quantitative content analysis of victim safety provisions

In Australia, protection orders are a key legal response to domestic violence, and are often viewed as a way of providing for victim safety. For instance, recently the joint Australian and New South Wales Law Reform Commissions recommended that a common core purpose of all state and territory domestic violence legislation should be ‘to ensure or maximise the safety and protection of persons who fear or experience family violence’ (2010:Recommendation 7-4). Drawing and building upon prior research in Australia and the United States (‘US’), this paper uses comparative quantitative content analysis to assess the victim safety focus of domestic violence protection order legislation in each Australian state and territory. The findings of this analysis show that the Northern Territory, South Australia and Victoria ‘stand out’ from the other jurisdictions, having the highest victim safety focus in their legislation. However, there remains sizeable scope for improvement in all Australian jurisdictions, in terms of the victim safety focus of their legislative provisions and the considerations of legislative inconsistency between jurisdictions.

Cumulative and comparative social media analytics for crisis communication

This paper draws on comparative analyses of Twitter data sets – over time and across different kinds of natural disasters and different national contexts – to demonstrate the value of shared, cumulative approaches to social media analytics in the context of crisis communication.

Abstraction : on ambiguity and semiosis in abstract painting

Drawing on the fields of philosophy, phenomenology, art history and theory as well as the candidate's own painting practice, this PhD explores the nature of ambiguity and semiosis in contemporary abstract painting. The thesis demonstrates how the aesthetic qualities of pause and rupture, transition and slippage work emergently to break established clichés, habits and intentions in the experiencing of abstract painting and artistic practice.